view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02080.hp1 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0111 others(10): Show |
13 | 44 | 0.2955 | -23 | c.235 others(40): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119771868 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 312 | 0.0032 | -23 | c.179 others(40): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119771870 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 321 | 0.0031 | -23 | c.179 others(40): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229990 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 268 | 0.0037 | -23 | c.117 others(42): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124540 | GGAAAAAA others(16): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0208 | 1 | 267 | 0.0037 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124571 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0033 | a0001c0033t0093 | a0001c0033t0093g0145 | 1 | 288 | 0.0035 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124573 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0022 | a0001c0022t0024 | a0001c0022t0024g0072 | 1 | 288 | 0.0035 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSYN2A_chr10_127130430_127201591 | 127164159 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01099.hp1 others(41): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0203 others(32): Show |
44 | 45 | 0.9778 | -23 | c.118 others(44): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6598764 | TGTGTGTG others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0005 | a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0007t0005g0042 |
3 | 392 | 0.0077 | -23 | c.581 others(40): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1507000 | TGTTGACA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 2 | 314 | 0.0064 | -23 | c.-27 others(34): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
INTS6_chr13_51356577_51458036 | 51406432 | CCACCTCC others(16): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 356 | 0.0028 | -23 | c.430 others(42): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28780227 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0009t0001g0208 |
3 | 11 | 0.2727 | -23 | c.127 others(40): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 12/16 | chr8 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154273724 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 98 | 0.0102 | -23 | c.-17 others(40): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236491222 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 206 | 0.0049 | -23 | c.456 others(40): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197933078 | AAAATACA others(16): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 278 | 0.0036 | -23 | c.516 others(38): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197953493 | ATTAACCC others(16): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 278 | 0.0036 | -23 | c.-60 others(40): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 2/11 | chr3 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76496742 | TTTCTTTC others(16): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0002a0027 | a0002c0001a0027c0053 | a0002c0001t0003a0027c0053t0003 | a0002c0001t0003g0189 a0027c0053t0003g0195 |
2 | 219 | 0.0091 | -23 | c.146 others(42): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10658677 | CGTGCTGT others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0044 | a0006c0044t0004 | a0006c0044t0004g0224 | 1 | 276 | 0.0036 | -23 | c.68- others(38): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49660005 | ACACACAC others(16): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18961.hp2 NA18965.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 3 | 398 | 0.0075 | -23 | c.109 others(40): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
ISLR_chr15_74168710_74181871 | 74177561 | TGTGTACA others(16): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -23 | c.*14 others(34): Show |
ISLR | ENSG00000129009.13 | transcript | ENST00000249842.8 | protein_coding | 691 | chr15 | TogoVar | |||||||
ISOC1_chr5_129089749_129119028 | 129090626 | AATGAGGG others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0008a0001c0003t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0021 others(32): Show |
69 | 416 | 0.1659 | -23 | c.-41 others(34): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 4122 | chr5 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55450106 | GGACCCAG others(16): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 378 | 0.0026 | -23 | c.*31 others(34): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2878 | chr19 | TogoVar | |||||||
IST1_chr16_71890531_71936199 | 71892178 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0280 others(10): Show |
15 | 38 | 0.3947 | -23 | c.-34 others(34): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 3352 | chr16 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400838 | TTATATTA others(16): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0018 | a0005c0018t0046 | a0005c0018t0046g0031 | 1 | 240 | 0.0042 | -23 | c.164 others(40): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368134 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 348 | 0.0029 | -23 | c.*42 others(34): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4046 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53092928 | TGAAACCC others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp1 others(35): Show |
a0002a0016 | a0002c0003a0002c0007a0002c0009others(1): Show | a0002c0003t0007a0002c0003t0017a0002c0003t0026others(4): Show | a0002c0003t0007g0021 a0002c0003t0007g0022 a0002c0003t0007g0073 others(33): Show |
38 | 396 | 0.0960 | -23 | c.*23 others(34): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 30/30 | 2330 | chr5 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15586353 | CTGGCATA others(16): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0220 | 1 | 218 | 0.0046 | -23 | c.237 others(40): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 23/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512008 | CTTTTCTT others(16): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0026 | a0004c0026t0029 | a0004c0026t0029g0154 | 1 | 163 | 0.0061 | -23 | c.898 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512112 | CCTTCCTT others(16): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0095 | 1 | 157 | 0.0064 | -23 | c.898 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0039 | 1 | 219 | 0.0046 | -23 | c.704 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334681 | TTTCTTTC others(16): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03688.hp1 HG04115.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0039 a0002c0003t0003g0060 a0002c0003t0003g0115 |
3 | 233 | 0.0129 | -23 | c.*29 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1805 | chr16 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9425746 | GTTTACAT others(16): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0127 others(74): Show |
102 | 274 | 0.3723 | -23 | c.-24 others(34): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 2219 | chr2 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44884525 | GTAGACAC others(16): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0007a0001c0009a0001c0014 | a0001c0007t0001a0001c0009t0001a0001c0014t0001 | a0001c0007t0001g0371 a0001c0007t0001g0388 a0001c0009t0001g0277 others(1): Show |
4 | 442 | 0.0090 | -23 | c.*18 others(34): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1427 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44906455 | TGAAACAG others(16): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0108 | 1 | 442 | 0.0023 | -23 | c.328 others(38): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 4/15 | chr21 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124864096 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02148.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0008t0002others(3): Show | a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0014g0311 others(8): Show |
11 | 63 | 0.1746 | -23 | c.157 others(40): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101651385 | TCTCTAAT others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 304 | 0.0033 | -23 | c.101 others(44): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737523 | CTATGTAT others(16): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0268 a0001c0011t0001g0269 |
2 | 378 | 0.0053 | -23 | c.195 others(42): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566792 | AAGAAGAA others(16): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 NA18959.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0004 | a0001c0006t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0006t0001g0136 a0002c0003t0001g0103 a0002c0004t0001g0226 others(1): Show |
4 | 222 | 0.0180 | -23 | c.215 others(40): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7671779 | CCAGGGGA others(16): Show |
C | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0327 | 1 | 340 | 0.0029 | -23 | c.-49 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 4814 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7671786 | AGGTATGT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01070.hp2 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0002c0003others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0047others(29): Show | a0001c0001t0001g0028 a0001c0001t0001g0185 a0001c0001t0001g0203 others(59): Show |
62 | 340 | 0.1824 | -23 | c.-49 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 4821 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157240918 | TTTTCCTT others(16): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 346 | 0.0029 | -23 | c.986 others(38): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITPKB_chr1_226626690_226744282 | 226660636 | AGGCCTCG others(16): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0050 | a0003c0003t0050g0161 | 1 | 348 | 0.0029 | -23 | c.193 others(44): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26567988 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0010a0001c0001t0017a0001c0002t0001others(37): Show | a0001c0001t0010g0129 a0001c0001t0017g0102 a0001c0002t0001g0078 others(38): Show |
41 | 111 | 0.3694 | -23 | c.463 others(42): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26567989 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0017 | a0002c0017t0018 | a0002c0017t0018g0108 | 1 | 140 | 0.0071 | -23 | c.463 others(42): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784329 | CTCCCTCT others(16): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0125 | 1 | 140 | 0.0071 | -23 | c.163 others(40): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31521616 | TTCCCTCC others(16): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01257.hp1 others(7): Show |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(3): Show | a0002c0001t0001g0197 a0002c0001t0001g0205 a0002c0001t0002g0189 others(7): Show |
10 | 253 | 0.0395 | -23 | c.-98 others(40): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599636 | TCTTTCTT others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01993.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0001a0003c0005others(4): Show | a0001c0003t0001a0001c0003t0002a0002c0001t0003others(7): Show | a0001c0003t0001g0015 a0001c0003t0001g0073 a0001c0003t0001g0077 others(11): Show |
14 | 310 | 0.0452 | -23 | c.122 others(44): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134556913 | CACACACA others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0024 | 1 | 386 | 0.0026 | -23 | c.312 others(40): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134587997 | CAAAAAAA others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0024 a0001c0001t0030g0097 |
2 | 69 | 0.0290 | -23 | c.*86 others(34): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4771 | chr5 | TogoVar | |||||||
JAG1_chr20_10632684_10678999 | 10669547 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(66): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0003a0001c0001t0022a0001c0002t0009others(24): Show | a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0033 others(62): Show |
69 | 104 | 0.6635 | -23 | c.387 others(40): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar |